Total 3 pathogenic variants reported for Ependymoma

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000268.4(NF2):c.551G>A (p.Trp184Ter)	SNV Somatic	Chr22:29655628	Likely pathogenic	Ependymoma	No Assertion Criteria Provided	CA411142590	rs_1555993293	1 SubmittersRCV000577850
NM_000251.3(MSH2):c.482T>C (p.Val161Ala)	SNV Germline	Chr2:47410209	Conflicting classifications of pathogenicity	Hereditary nonpolyposis colorectal neoplasms Breast carcinoma Ependymoma Hereditary cancer-predisposing syndrome Lynch syndrome 1	Criteria Provided Conflicting Classifications		rs_63750126	5 SubmittersRCV000685129 RCV001554318 RCV002286419 RCV002331318 RCV003992370